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Page 1
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T. Peng Y, et al. Hum Mol Genet. 2017 Dec 15;26(24):4937-4950. doi: 10.1093/hmg/ddx377. Hum Mol Genet. 2017. PMID: 29040572 Free PMC article.
The Genome of C57BL/6J "Eve", the Mother of the Laboratory Mouse Genome Reference Strain.
Sarsani VK, Raghupathy N, Fiddes IT, Armstrong J, Thibaud-Nissen F, Zinder O, Bolisetty M, Howe K, Hinerfeld D, Ruan X, Rowe L, Barter M, Ananda G, Paten B, Weinstock GM, Churchill GA, Wiles MV, Schneider VA, Srivastava A, Reinholdt LG. Sarsani VK, et al. G3 (Bethesda). 2019 Jun 5;9(6):1795-1805. doi: 10.1534/g3.119.400071. G3 (Bethesda). 2019. PMID: 30996023 Free PMC article.
The ENCODE4 long-read RNA-seq collection reveals distinct classes of transcript structure diversity.
Reese F, Williams B, Balderrama-Gutierrez G, Wyman D, Çelik MH, Rebboah E, Rezaie N, Trout D, Razavi-Mohseni M, Jiang Y, Borsari B, Morabito S, Liang HY, McGill CJ, Rahmanian S, Sakr J, Jiang S, Zeng W, Carvalho K, Weimer AK, Dionne LA, McShane A, Bedi K, Elhajjajy SI, Upchurch S, Jou J, Youngworth I, Gabdank I, Sud P, Jolanki O, Strattan JS, Kagda MS, Snyder MP, Hitz BC, Moore JE, Weng Z, Bennett D, Reinholdt L, Ljungman M, Beer MA, Gerstein MB, Pachter L, Guigó R, Wold BJ, Mortazavi A. Reese F, et al. bioRxiv [Preprint]. 2023 May 16:2023.05.15.540865. doi: 10.1101/2023.05.15.540865. bioRxiv. 2023. PMID: 37292896 Free PMC article. Preprint.
An allelic series of spontaneous Rorb mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated with the unfolded protein response.
Murray GC, Bubier JA, Zinder OJ, Harris B, Clark J, Christopher MC, Hanley C, Tjong H, Li M, Ngan CY, Reinholdt L, Burgess RW, Tadenev ALD. Murray GC, et al. G3 (Bethesda). 2023 Aug 9;13(8):jkad131. doi: 10.1093/g3journal/jkad131. G3 (Bethesda). 2023. PMID: 37300435 Free PMC article.
11 results